Recessive Genetic Disorders Carrier Screening (Basic Plan: 9 Diseases) (Per Couple) (HeredScreen)

Being a carrier of a genetic disease means that person only has mutation in one of the copies of a particular gene while the patient carries two copies, about 60% of Hong Kong population are carriers of recessive mutated genes. According to a study of Mendelian diseases, the average genomic carrier burden for severe recessive mutations was 2.82. If both parents have the same recessive gene mutation, they have a 75% chance to pass on the mutant recessive gene to their offspring, while there is a 25% chance that children will inherit the recessive genes from both parents at the same time and suffering from severe illness. Many Mendelian diseases can cause death, malformation,mental impairment, or organ failure.

There is a 50% chance that children have inherited a recessive disease-causing gene from the parent only. They become the carriers like their parents and have the opportunity to continue to pass the gene to their next generation. If the risk of these diseases for the next generation can be detected as early as possible, we can help couples who plan to have children and pregnant women in the early stages of pregnancy for better preparation in advance.

HeredScreen Carrier Screening Panel

Basic Plan: 9 recessive genetic disorders

• 甲型地中海貧血 Alphathalassemia
• 乙型地中海貧血 Betathalassemia
• G6PD缺乏症(蠶豆症) G6PDdeficiency
• 苯丙酮尿症(智力障礙) Phenylketonuria (PKU)
• 半乳糖血症(奶類製品代謝異常)Galactosemia
• 二型瓜胺酸血症(肝功能異常) Citrullinemiatype-II (CTLN-II)
• 5α-還原酶缺乏症(生殖系統異常) 5-Alpha-Reductase Deficiency
• 龐貝氏症(肌肉無力及及呼吸困難) Pompe disease
• 威爾遜病(銅質代謝異常) Wilson's Disease

Features:

• Adopts accurate and reliable latest gene sequencing technology Next Generation Sequencing (NGS)
• HeredScreen detects recessive genetic disorders with positive rate up to 50%
• All targeted regions are sequenced with ≥50X depth or supplemented with additional analysis.
• Accuracy up to 99.9%
• Covers most common recessive hereditary diseases
• Medical reports including details of the disease
• Professional genetic counseling, helping parents with family planning
  
  

Type of sample collection: Oral DNA or Blood

Report: 20-30 working days

HeredScreen

• Service registration and blood samples collection at Kinetics Integrated Medical & Health Centre
• The blood sample would be delivered to Cordlife (Hong Kong) Limited for testing and processing. 
• When the blood samples processing is completed, a HeredScreen report will be issued and elaborated by Cordlife (Hong Kong) Limited Laboratory Director. The report would be mailed by Cordlife (Hong Kong) Limited.